Nmnat1 Gene Summary [Mouse]
Enables nicotinamide-nucleotide adenylyltransferase activity; nicotinate-nucleotide adenylyltransferase activity; and protein ADP-ribosyltransferase-substrate adaptor activity. Involved in NAD biosynthetic process via the salvage pathway; negative regulation of DNA-templated transcription; and nicotinamide metabolic process. Acts upstream of or within several processes, including NAD biosynthetic process; negative regulation of adipose tissue development; and positive regulation of adipose tissue development. Is active in chromatin and nucleus. Is expressed in retina; retina ganglion cell layer; retina inner nuclear layer; and retina layer. Used to study Leber congenital amaurosis 9 and retinal degeneration. Human ortholog(s) of this gene implicated in Leber congenital amaurosis 9 and spondyloepiphyseal dysplasia, sensorineural hearing loss, intellectual developmental disorder, and Leber congenital amaurosis. Orthologous to human NMNAT1 (nicotinamide nucleotide adenylyltransferase 1). [provided by Alliance of Genome Resources, Apr 2025]
Details
| Type | Protein Coding |
| Official Symbol | Nmnat1 |
| Official Name | nicotinamide nucleotide adenylyltransferase 1 [Source:MGI Symbol;Acc:MGI:1913704] |
| Ensembl ID | ENSMUSG00000028992 |
| Bio databases IDs | |
| Aliases | nicotinamide nucleotide adenylyltransferase 1 |
| Synonyms | 2610529L11Rik, 5730441G13Rik, D4Cole1e, LCA9, nicotinamide nucleotide adenylyltransferase 1, NMNAT, PNAT1, SHILCA |
| Species | Mouse, Mus musculus |
| Orthologies |
Protein Domains
A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in mouse Nmnat1 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- nicotinate-nucleotide adenylyltransferase
- Cytidylyltransferase-like
- nicotinate (nicotinamide) nucleotide adenylyltransferase
- cytidyltransferase-like domain
- nuclear localization sequence
- protein binding activity, bridging
- enzyme
- protein binding
- nicotinamide-nucleotide adenylyltransferase
- identical protein binding
- nucleotidyl transferase superfamily
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- neurodegeneration
- retinal dystrophy
- leber congenital amaurosis type 9
- Leber congenital amaurosis type 1
- hereditary disorder
- spondyloepiphyseal dysplasia, sensorineural hearing loss, impaired intellectual development, and Leber congenital amaurosis
- cone-rod dystrophy
- cone dystrophy
- autosomal recessive retinal dystrophy
- Wallerian degeneration
role in cell
- growth
- expression in
- cell death
- apoptosis
- degeneration
- production in
- transcription in
- poly(ADP-ribosyl)ation in
- function in
- degeneration in
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Nucleus
- nucleoplasm
- nuclear bodies
- chromatin
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the mouse Nmnat1 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- negative regulation of transcription, DNA-dependent
- nucleotide biosynthetic process
- NAD biosynthetic process
- response to wounding
- positive regulation of MAPK cascade
- negative regulation of neuron apoptotic process
Cellular Component
Where in the cell the gene product is active
- nucleus
- nuclear body
- chromatin
- nucleoplasm
Molecular Function
What the gene product does at the molecular level
- ATP binding
- nicotinate-nucleotide adenylyltransferase activity
- identical protein binding
- protein binding
- nicotinamide-nucleotide adenylyltransferase activity